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rs797045329

From SNPedia

Orientationplus
Make rs797045329(-;-)
Make rs797045329(-;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position77998496
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045329
ebirs797045329
HLIrs797045329
Exacrs797045329
Varsomers797045329
Maprs797045329
PheGenIrs797045329
hapmaprs797045329
1000 genomesrs797045329
hgdprs797045329
ensemblrs797045329
gopubmedrs797045329
geneviewrs797045329
scholarrs797045329
googlers797045329
pharmgkbrs797045329
gwascentralrs797045329
openSNPrs797045329
23andMers797045329
23andMe allrs797045329
SNP Nexus

SNPshotrs797045329
SNPdbers797045329
MSV3drs797045329
GWAS Ctlgrs797045329
Max Magnitude
ClinVar
Risk rs797045329(;)
Alt rs797045329(;)
Reference rs797045329(T;T)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77253993delT
CLNSRC
CLNACC RCV000193526.1,